Mondo Description Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the COX7B gene.

Uniprot Description A distinct form of aplasia cutis congenita presenting as multiple linear skin defects on the face and neck associated with poor growth, microcephaly, and facial dysmorphism. Additional features include intellectual disability, nail dystrophy, short stature and cardiac abnormalities.